A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002113



Internal ID18744644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:121352989..121363002hg38UCSC Ensembl
Innerchr4:122274144..122284157hg19UCSC Ensembl
Innerchr4:122493594..122503607hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg3810014
hg1910014
hg1810014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5376n100
Supporting Variantsnssv3639364
Samples
Known GenesQRFPR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002113
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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